The clinical features associated with hereditary hemochromatosis are well known. However, recent advances such as screening programs for asymptomatic persons and the cloning of a putative hemochromatosis gene have changed both the phenotypic expression of the disease, as well as the ability to perform genetic testing and family screening. In this study, we will describe the phenotypic characteristics of hereditary hemochromatosis in patients from the Pacific Northwest region. We will then determine the prevalence of a newly described mutation in the HLA-H gene (1) in hemochromatosis patients. Finally, we will correlate phenotypic expression of hemochromatosis with genotypic findings, including correlation between genotype and total body iron load as assessed by mesurement of hepatic iron, and quantitative phlebotomy.